results provide insights into an unexpected biological role of XPC in response to DNA replication stress

Allelic variants in the gene XPC are not associated with an increased risk for developing pre-senile cataract

XPC dissociation from the damage site could become a rate-limiting step in nucleotide excision repair (NER (zeige NR1H2 Proteine)) of certain types of DNA adducts, leading to repression of NER (zeige NR1H2 Proteine).

Histone deacetylation plays a significant role in the process of DNA damage recognition for nucleotide excision repair and the localization and functions of XPC can be regulated by acetylated states of histones.

The risk of esophageal squamous cell carcinoma associated with XPC rs-2228000 was determined. A homozygous minor allele showed strong association with ESCC risk, especially in smokers, those in adobe houses, and drinkers of salt tea. Variant genotypes of both XPA (zeige XPA Proteine) and XPC in combination showed an increased risk towards ESCC.

the associations between three XPC gene polymorphisms (rs2228001 A>C, rs2228000 C>T, and rs2229090 G>C) and neuroblastoma risk with 256 neuroblastoma patients and 531 healthy controls in a Chinese Han population, were investigated.

results suggest that XPC may help repair DNA damage caused by KRAS-mediated production of ROS (zeige ROS1 Proteine).

OCT4 (zeige POU5F1 Proteine) and SOX2 (zeige SOX2 Proteine) are the primary transcription factors recruiting SCC (zeige CYP11A1 Proteine) to regulatory regions of pluripotency genes; the XPC subunit is essential for interaction with the two proteins

progerin and p16(INK4a) expression, beta-galactosidase (zeige GLB1 Proteine) activity, and reactive oxygen species, which increase with age, were higher in young Xpc(-/-) mice than in young Xpc(+/+) ones

Study indicates that Xpc(-/-) mice have an increased mutational load upon induction of oxidative stress. The effect of non-functional XPC in vivo appears to have implications in mutagenesis, which can contribute to the carcinogenesis process.

The C-terminal region of Xpc is dispensable for the transcriptional activity of Oct3/4 (zeige POU5F1 Proteine) in mouse embryonic stem cells.

mutational hot spot is not at a dipyrimidine site and is apparently Xpc-specific, suggesting some form of non-dipyrimidine base damage is normally repaired in a manner distinct from conventional nucleotide excision repair, but that requires XPC protein

Deletion of Gadd45a (zeige GADD45A Proteine) alone does not lead to increased lung tumors in mice, but coupled with an XPC deletion, it results in lung tumor progression

XPC Protein Überblick

Protein Überblick

This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene.